Annotation Detail

Information
Associated Genes
JAK1
Associated Variants
JAK1 MUTATION
JAK1 MUTATION
Associated Disease
T-cell prolymphocytic leukemia
Source Database
DisGeNET
Description
These results for the first time provide a portrait of the mutational landscape of T-PLL and implicate deregulation of DNA repair and epigenetic modulators as well as high-frequency mutational activation of the IL2RG-JAK1-JAK3-STAT5B axis in the pathogenesis of T-PLL.
Pubmed
24825865
Section of the abstract supporting the evidence
ALL_TEXT_3/3
Number of the section of the abstract supporting the evidence
3
Number of the sentence supporting the evidence
9
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Drugs